ClinVar for MedGen (Select 419735) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065013	NM_001040125.2(SLC66A1):c.618_618+11del	SLC66A1	Deletion (splice donor variant)	Nephropathic cystinosis	GUncertain significance
Select item 3024554	NM_004937.3(CTNS):c.462-1G>A	CTNS, CTNS-AS1	Single nucleotide variant (splice acceptor variant)	Nephropathic cystinosis	GLikely pathogenic
Select item 2681026	NM_004937.3(CTNS):c.955C>T (p.Gln319Ter)	CTNS (Q319* +1 more)	Single nucleotide variant (nonsense)	Nephropathic cystinosis	GLikely pathogenic
Select item 2681025	NM_004937.3(CTNS):c.562-2A>G	CTNS, CTNS-AS1	Single nucleotide variant (splice acceptor variant)	Nephropathic cystinosis	GLikely pathogenic
Select item 2681024	NM_004937.3(CTNS):c.646_647insAA (p.Thr216fs)	CTNS, CTNS-AS1 (T216fs +1 more)	Insertion (frameshift variant)	Nephropathic cystinosis +3 more	GPathogenic/Likely pathogenic
Select item 2681023	NM_004937.3(CTNS):c.15G>A (p.Trp5Ter)	CTNS (W5*)	Single nucleotide variant (5 prime UTR variant +2 more)	Nephropathic cystinosis +3 more	GPathogenic
Select item 2681022	NM_004937.3(CTNS):c.600del (p.Pro200_Val201insTer)	CTNS, CTNS-AS1	Deletion (frameshift variant)	Nephropathic cystinosis	GLikely pathogenic
Select item 2681021	NM_004937.3(CTNS):c.226-1G>A	CTNS, CTNS-AS1	Single nucleotide variant (splice acceptor variant)	Nephropathic cystinosis	GLikely pathogenic
Select item 2681020	NM_004937.3(CTNS):c.814_818delinsT (p.Ile272fs)	CTNS (I125fs +1 more)	Indel (frameshift variant)	Nephropathic cystinosis	GLikely pathogenic
Select item 2681019	NM_004937.3(CTNS):c.864C>A (p.Asn288Lys)	CTNS (N141K +1 more)	Single nucleotide variant (missense variant)	Nephropathic cystinosis	GLikely pathogenic
Select item 2681018	NM_004937.3(CTNS):c.546G>A (p.Trp182Ter)	CTNS, CTNS-AS1 (W182* +1 more)	Single nucleotide variant (nonsense)	Nephropathic cystinosis	GLikely pathogenic
Select item 2681017	NM_004937.3(CTNS):c.963del (p.Ser320_Tyr321insTer)	CTNS	Deletion (nonsense)	Nephropathic cystinosis	GLikely pathogenic
Select item 2681016	NM_004937.3(CTNS):c.314_317del (p.His105fs)	CTNS, CTNS-AS1 (H105fs)	Deletion (frameshift variant +1 more)	Nephropathic cystinosis +3 more	GPathogenic
Select item 2681015	NM_004937.3(CTNS):c.140+1_140+20del	CTNS	Deletion (splice donor variant +1 more)	Nephropathic cystinosis	GLikely pathogenic
Select item 2681014	NM_004937.3(CTNS):c.977G>A (p.Trp326Ter)	CTNS (W179* +1 more)	Single nucleotide variant (nonsense)	Nephropathic cystinosis	GLikely pathogenic
Select item 2681013	NM_004937.3(CTNS):c.877dup (p.Ser293fs)	CTNS (S146fs +1 more)	Duplication (frameshift variant)	Nephropathic cystinosis	GLikely pathogenic
Select item 2681012	NM_004937.3(CTNS):c.971-2dup	CTNS	Duplication (splice acceptor variant)	Nephropathic cystinosis	GLikely pathogenic
Select item 2681011	NM_004937.3(CTNS):c.530A>G (p.Asn177Ser)	CTNS, CTNS-AS1 (N177S +1 more)	Single nucleotide variant (missense variant)	Nephropathic cystinosis	GLikely pathogenic
Select item 2681009	NM_004937.3(CTNS):c.395G>A (p.Trp132Ter)	CTNS, CTNS-AS1 (W132*)	Single nucleotide variant (nonsense +1 more)	Nephropathic cystinosis	GLikely pathogenic
Select item 2681007	NM_004937.3(CTNS):c.225+3A>T	CTNS	Single nucleotide variant (intron variant)	Nephropathic cystinosis +3 more	GPathogenic/Likely pathogenic
Select item 2585203	NM_004937.3(CTNS):c.120dup (p.Asn41fs)	CTNS (N41fs)	Duplication (frameshift variant +2 more)	Nephropathic cystinosis	GLikely pathogenic
Select item 2579164	NM_004937.3(CTNS):c.916T>A (p.Phe306Ile)	CTNS (F159I +1 more)	Single nucleotide variant (missense variant)	Nephropathic cystinosis	GUncertain significance
Select item 2137881	NM_004937.3(CTNS):c.1036_1047del (p.Asp346_Phe349del)	CTNS	Deletion (inframe_deletion)	Ocular cystinosis +3 more	GConflicting classifications of pathogenicity
Select item 2069596	NM_004937.3(CTNS):c.1045T>G (p.Phe349Val)	CTNS (F202V +1 more)	Single nucleotide variant (missense variant)	Nephropathic cystinosis +3 more	GConflicting classifications of pathogenicity
Select item 1726980	NM_004937.3(CTNS):c.236del (p.Pro79fs)	CTNS, CTNS-AS1 (P79fs)	Deletion (frameshift variant +1 more)	Nephropathic cystinosis +2 more	GLikely pathogenic
Select item 1726091	NM_004937.3(CTNS):c.672C>A (p.Cys224Ter)	CTNS, CTNS-AS1 (C224* +1 more)	Single nucleotide variant (nonsense)	Nephropathic cystinosis +2 more	GLikely pathogenic
Select item 1724190	NM_004937.3(CTNS):c.286C>T (p.Gln96Ter)	CTNS, CTNS-AS1 (Q96*)	Single nucleotide variant (nonsense +1 more)	Ocular cystinosis +3 more	GPathogenic/Likely pathogenic
Select item 1705665	NM_004937.3(CTNS):c.751_752del (p.Thr251fs)	CTNS (T104fs +1 more)	Deletion (frameshift variant)	Ocular cystinosis +3 more	GPathogenic
Select item 1705610	NM_004937.3(CTNS):c.140+1G>C	CTNS	Single nucleotide variant (splice donor variant +1 more)	Nephropathic cystinosis	GLikely pathogenic
Select item 1698582	NM_004937.3(CTNS):c.565C>T (p.Gln189Ter)	CTNS, CTNS-AS1 (Q189* +1 more)	Single nucleotide variant (nonsense)	Cystinosis +4 more	GPathogenic/Likely pathogenic
Select item 1663935	NM_004937.3(CTNS):c.61+20G>A	CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis +3 more	GLikely benign
Select item 1652153	NM_004937.3(CTNS):c.562-16C>T	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Ocular cystinosis +3 more	GLikely benign
Select item 1635726	NM_004937.3(CTNS):c.141-8C>T	CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis +3 more	GLikely benign
Select item 1596904	NM_004937.3(CTNS):c.225+19C>T	CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis +3 more	GLikely benign
Select item 1585480	NM_004937.3(CTNS):c.562-20T>C	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 1549535	NM_004937.3(CTNS):c.552C>T (p.Pro184=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant)	Nephropathic cystinosis +2 more	GLikely benign
Select item 1504210	NM_004937.3(CTNS):c.61+2T>C	CTNS	Single nucleotide variant (splice donor variant +1 more)	Ocular cystinosis +3 more	GLikely pathogenic
Select item 1497879	NM_004937.3(CTNS):c.691C>A (p.Gln231Lys)	CTNS, CTNS-AS1 (Q231K +1 more)	Single nucleotide variant (missense variant)	Ocular cystinosis +3 more	GUncertain significance
Select item 1425663	NM_004937.3(CTNS):c.699_700del (p.Ser234fs)	CTNS (S234fs +1 more)	Microsatellite (frameshift variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 1417838	NM_004937.3(CTNS):c.682C>T (p.Arg228Cys)	CTNS, CTNS-AS1 (R228C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1386952	NM_004937.3(CTNS):c.697G>A (p.Val233Met)	CTNS (V86M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1384609	NM_004937.3(CTNS):c.683G>T (p.Arg228Leu)	CTNS, CTNS-AS1 (R81L +1 more)	Single nucleotide variant (missense variant)	Juvenile nephropathic cystinosis +2 more	GUncertain significance
Select item 1381664	NM_004937.3(CTNS):c.140G>A (p.Arg47Gln)	CTNS (R47Q)	Single nucleotide variant (missense variant +2 more)	Juvenile nephropathic cystinosis +3 more	GUncertain significance
Select item 1339138	NM_004937.3(CTNS):c.839A>C (p.Lys280Thr)	CTNS (K133T +1 more)	Single nucleotide variant (missense variant)	Nephropathic cystinosis	GUncertain significance
Select item 1301671	NM_004937.3(CTNS):c.1062C>A (p.Phe354Leu)	CTNS (F207L +1 more)	Single nucleotide variant (missense variant)	Nephropathic cystinosis	GUncertain significance
Select item 1210394	NM_004937.3(CTNS):c.187C>T (p.Arg63Cys)	CTNS (R63C)	Single nucleotide variant (missense variant +2 more)	Juvenile nephropathic cystinosis +3 more	GUncertain significance
Select item 1199333	NM_004937.3(CTNS):c.782C>G (p.Thr261Arg)	CTNS (T114R +1 more)	Single nucleotide variant (missense variant)	Nephropathic cystinosis	GUncertain significance
Select item 1199332	NM_004937.3(CTNS):c.*259C>T	CTNS (A366V)	Single nucleotide variant (missense variant +1 more)	Nephropathic cystinosis	GUncertain significance
Select item 1184687	NM_004937.3(CTNS):c.970+70C>T	CTNS	Single nucleotide variant (intron variant)	Nephropathic cystinosis +2 more	GBenign
Select item 1184686	NM_004937.3(CTNS):c.461+49A>G	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GBenign
Select item 1184632	NM_004937.3(CTNS):c.141-103G>A	CTNS	Single nucleotide variant (intron variant)	Nephropathic cystinosis +2 more	GBenign
Select item 1179166	GRCh37/hg19 17p13.2(chr17:3539741-3561489)	CTNS	Copy number loss	Ocular cystinosis +2 more	GPathogenic
Select item 1165294	NM_004937.3(CTNS):c.-635G>C	CTNS	Single nucleotide variant	not provided +3 more	GBenign
Select item 1152835	NM_004937.3(CTNS):c.831G>T (p.Thr277=)	CTNS	Single nucleotide variant (synonymous variant)	Ocular cystinosis +3 more	GLikely benign
Select item 1111224	NM_004937.3(CTNS):c.729C>T (p.Leu243=)	CTNS	Single nucleotide variant (synonymous variant)	Ocular cystinosis +3 more	GLikely benign
Select item 1095045	NM_004937.3(CTNS):c.1038C>T (p.Asp346=)	CTNS	Single nucleotide variant (synonymous variant)	Ocular cystinosis +3 more	GLikely benign
Select item 1075103	NM_004937.3(CTNS):c.61G>T (p.Glu21Ter)	CTNS (E21*)	Single nucleotide variant (nonsense +2 more)	Ocular cystinosis +3 more	GPathogenic/Likely pathogenic
Select item 1067346	NM_004937.3(CTNS):c.839A>G (p.Lys280Arg)	CTNS (K133R +1 more)	Single nucleotide variant (missense variant)	Ocular cystinosis +4 more	GPathogenic/Likely pathogenic
Select item 1065827	NM_004937.3(CTNS):c.681+8del	CTNS, CTNS-AS1	Deletion (intron variant)	Nephropathic cystinosis	GPathogenic
Select item 1065629	NM_004937.3(CTNS):c.262C>A (p.Gln88Lys)	CTNS, CTNS-AS1 (Q88K)	Single nucleotide variant (missense variant +1 more)	Ocular cystinosis +2 more	GUncertain significance
Select item 1065114	NM_004937.3(CTNS):c.971-1G>C	CTNS	Single nucleotide variant (splice acceptor variant)	Nephropathic cystinosis	GLikely pathogenic
Select item 1042415	NM_004937.3(CTNS):c.1045TTC[1] (p.Phe350del)	CTNS (F203del +1 more)	Microsatellite (inframe_deletion)	Ocular cystinosis +3 more	GUncertain significance
Select item 990466	NM_004937.3(CTNS):c.634G>A (p.Ala212Thr)	CTNS, CTNS-AS1 (A212T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 990028	NM_004937.3(CTNS):c.140+3A>G	CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GUncertain significance
Select item 984079	NM_004937.3(CTNS):c.402C>G (p.Tyr134Ter)	CTNS, CTNS-AS1 (Y134*)	Single nucleotide variant (nonsense +1 more)	Ocular cystinosis +2 more	GLikely pathogenic
Select item 984078	NM_004937.3(CTNS):c.300T>A (p.Tyr100Ter)	CTNS, CTNS-AS1 (Y100*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 966528	NM_004937.3(CTNS):c.681+1G>A	CTNS, CTNS-AS1	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +4 more	GPathogenic
Select item 959150	NM_004937.3(CTNS):c.140+2T>C	CTNS	Single nucleotide variant (splice donor variant +1 more)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 891951	NM_004937.3(CTNS):c.*2020T>C	CTNS	Single nucleotide variant (3 prime UTR variant)	Nephropathic cystinosis +1 more	GUncertain significance
Select item 891950	NM_004937.3(CTNS):c.*2012C>T	CTNS	Single nucleotide variant (3 prime UTR variant)	Nephropathic cystinosis +1 more	GLikely benign
Select item 891757	NM_004937.3(CTNS):c.*599T>C	CTNS	Single nucleotide variant (3 prime UTR variant)	Ocular cystinosis +1 more	GUncertain significance
Select item 891686	NM_004937.3(CTNS):c.*206C>T	CTNS	Single nucleotide variant (3 prime UTR variant +1 more)	Nephropathic cystinosis +1 more	GUncertain significance
Select item 891685	NM_004937.3(CTNS):c.*180C>T	CTNS	Single nucleotide variant (3 prime UTR variant +1 more)	Nephropathic cystinosis +1 more	GLikely benign
Select item 891684	NM_004937.3(CTNS):c.*176G>A	CTNS	Single nucleotide variant (3 prime UTR variant +1 more)	Ocular cystinosis +1 more	GUncertain significance
Select item 891624	NM_004937.3(CTNS):c.730G>A (p.Ala244Thr)	CTNS (A97T +1 more)	Single nucleotide variant (missense variant)	Juvenile nephropathic cystinosis +3 more	GConflicting classifications of pathogenicity
Select item 891623	NM_004937.3(CTNS):c.699G>A (p.Val233=)	CTNS	Single nucleotide variant (synonymous variant)	Juvenile nephropathic cystinosis +3 more	GConflicting classifications of pathogenicity
Select item 891570	NM_004937.3(CTNS):c.*983G>A	CTNS	Single nucleotide variant (3 prime UTR variant)	Nephropathic cystinosis +1 more	GUncertain significance
Select item 891510	NM_004937.3(CTNS):c.*550G>A	CTNS	Single nucleotide variant (3 prime UTR variant)	Nephropathic cystinosis +1 more	GUncertain significance
Select item 891432	NM_004937.3(CTNS):c.*100G>T	CTNS	Single nucleotide variant (3 prime UTR variant +1 more)	Nephropathic cystinosis +1 more	GUncertain significance
Select item 891377	NM_004937.3(CTNS):c.661G>A (p.Val221Met)	CTNS, CTNS-AS1 (V221M +1 more)	Single nucleotide variant (missense variant)	Ocular cystinosis +3 more	GConflicting classifications of pathogenicity
Select item 891307	NM_004937.3(CTNS):c.306T>C (p.His102=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant +1 more)	Juvenile nephropathic cystinosis +3 more	GConflicting classifications of pathogenicity
Select item 891259	NM_004937.2(CTNS):c.-451A>G	CTNS, LOC130059980	Single nucleotide variant (5 prime UTR variant)	Ocular cystinosis +1 more	GUncertain significance
Select item 890756	NM_004937.3(CTNS):c.*2377G>A	CTNS	Single nucleotide variant (3 prime UTR variant)	Ocular cystinosis +1 more	GUncertain significance
Select item 890755	NM_004937.3(CTNS):c.*2243G>A	CTNS	Single nucleotide variant (3 prime UTR variant)	Ocular cystinosis +1 more	GUncertain significance
Select item 890705	NM_004937.3(CTNS):c.*1889C>T	CTNS	Single nucleotide variant (3 prime UTR variant)	Nephropathic cystinosis +1 more	GUncertain significance
Select item 890704	NM_004937.3(CTNS):c.*1708A>G	CTNS	Single nucleotide variant (3 prime UTR variant)	Ocular cystinosis +1 more	GUncertain significance
Select item 890173	NM_004937.3(CTNS):c.*2139T>C	CTNS	Single nucleotide variant (3 prime UTR variant)	Ocular cystinosis +1 more	GUncertain significance
Select item 890123	NM_004937.3(CTNS):c.*1659C>T	CTNS	Single nucleotide variant (3 prime UTR variant)	Ocular cystinosis +1 more	GUncertain significance
Select item 890075	NM_004937.3(CTNS):c.*1331G>A	CTNS	Single nucleotide variant (3 prime UTR variant)	Ocular cystinosis +1 more	GUncertain significance
Select item 890074	NM_004937.3(CTNS):c.*1250G>A	CTNS	Single nucleotide variant (3 prime UTR variant)	Ocular cystinosis +1 more	GUncertain significance
Select item 890013	NM_004937.3(CTNS):c.*835A>C	CTNS	Single nucleotide variant (3 prime UTR variant)	Nephropathic cystinosis +1 more	GUncertain significance
Select item 889952	NM_004937.3(CTNS):c.*469G>A	CTNS	Single nucleotide variant (3 prime UTR variant)	Nephropathic cystinosis +1 more	GUncertain significance
Select item 889890	NM_004937.3(CTNS):c.1071C>T (p.Tyr357=)	CTNS	Single nucleotide variant (synonymous variant)	Ocular cystinosis +1 more	GUncertain significance
Select item 889823	NM_004937.3(CTNS):c.534C>A (p.Ile178=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant)	Ocular cystinosis +1 more	GUncertain significance
Select item 889822	NM_004937.3(CTNS):c.481G>A (p.Asp161Asn)	CTNS, CTNS-AS1 (D161N +1 more)	Single nucleotide variant (missense variant)	Nephropathic cystinosis +2 more	GUncertain significance
Select item 889705	NM_004937.2(CTNS):c.-509C>G	CTNS, LOC130059980	Single nucleotide variant (5 prime UTR variant)	Nephropathic cystinosis +1 more	GUncertain significance
Select item 889571	NM_004937.3(CTNS):c.*2568G>C	CTNS, P2RX5-TAX1BP3 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephropathic cystinosis +1 more	GUncertain significance
Select item 889512	NM_004937.3(CTNS):c.*2082C>T	CTNS	Single nucleotide variant (3 prime UTR variant)	Nephropathic cystinosis +1 more	GUncertain significance
Select item 889511	NM_004937.3(CTNS):c.*2059C>G	CTNS	Single nucleotide variant (3 prime UTR variant)	Nephropathic cystinosis +1 more	GUncertain significance
Select item 889438	NM_004937.3(CTNS):c.*1502C>G	CTNS	Single nucleotide variant (3 prime UTR variant)	Nephropathic cystinosis +1 more	GUncertain significance

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